Linked Data
dbSNP Id:
rs780608878
ExAC:
19:10226165 C / T
gnomAD v2:
19-10226165-C-T
gnomAD v4:
19-10115489-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115489C>T , CM000681.2:g.10115489C>T | GRCh38 |
| NC_000019.9:g.10226165C>T , CM000681.1:g.10226165C>T | GRCh37 |
| NC_000019.8:g.10087165C>T | NCBI36 |
| NG_047007.1:g.8969C>T | |
| NG_051197.1:g.9436G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.937G>A MANE Select | ENSP00000253108.3:p.Glu313Lys | |
| ENST00000253108.8:c.937G>A | ENSP00000253108.3:p.Glu313Lys | |
| ENST00000590158.1:n.956G>A | ||
| ENST00000593054.5:c.331G>A | ENSP00000467187.1:p.Glu111Lys | |
| NM_003755.3:c.937G>A | NP_003746.2:p.Glu313Lys | |
| NM_003755.4:c.937G>A | NP_003746.2:p.Glu313Lys | |
| NM_003755.5:c.937G>A MANE Select | NP_003746.2:p.Glu313Lys |